New Drug Combination for Cystic Fibrosis Patients with Common Mutation

Cystic Fibrosis is an autosomal recessive genetic disorder most commonly caused by a deletion mutation on chromosome seven, referred to as the "Phe508del allele". This interferes with the functionality of the CFTR protein, causing excess mucus to build up in the lungs and other membranes. Now a recent study shows that a three-drug-combination including Trikafta has resulted in increased lung function in these patients with the Phe508del allele, as opposed to patients with the same mutation taking a placebo in place of Trikafta. In addition, patients taking the drug had a lower salt content in their sweat (another common symptom of cystic fibrosis), and self-reported a better quality of life after taking the drug.

This discovery is relevant to genetics because it specifically targets cystic fibrosis patients with the aforementioned Phe508del allele. This is important because this mutation is the most common cause of cystic fibrosis, and almost 90% of cystic fibrosis patients have at least one copy if this allele. Cystic fibrosis is currently without a cure, and this treatment will not only increase the quality of life for afflicted people, but might lead to the discovery of a cure in the future.

Article Link: https://www.usnews.com/news/health-news/articles/2019-11-01/drug-trio-could-give-patients-with-cystic-fibrosis-a-new-option
Related Link (Info in Phe508del mutation): http://www.umd.be/CFTR/W_CFTR/gene.html